Variant report

Variant	esv3446354
Chromosome Location	chr7:71225266-71227314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183172659	chr7:71225274-71225275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571041571	chr7:71225305-71225306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2191742	chr7:71225306-71225307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs35847491	chr7:71225387-71225388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552920947	chr7:71225516-71225517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568219124	chr7:71225584-71225585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs151152386	chr7:71225622-71225623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373460281	chr7:71225667-71225668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187802328	chr7:71225765-71225766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545990248	chr7:71225772-71225773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367754692	chr7:71225784-71225785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10254131	chr7:71225793-71225794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577032064	chr7:71225816-71225817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34227174	chr7:71225840-71225841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541028744	chr7:71225878-71225879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559353053	chr7:71225882-71225883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192428081	chr7:71225989-71225990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545152209	chr7:71226023-71226024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543872610	chr7:71226025-71226026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547299265	chr7:71226027-71226028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71531760	chr7:71226032-71226033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs61347355	chr7:71226041-71226042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541995050	chr7:71226065-71226066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185569191	chr7:71226077-71226078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28855729	chr7:71226090-71226091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35710135	chr7:71226106-71226107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs28888375	chr7:71226113-71226114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28768403	chr7:71226121-71226122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552693391	chr7:71226150-71226151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34724778	chr7:71226156-71226157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139834111	chr7:71226158-71226159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149830958	chr7:71226159-71226160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548342842	chr7:71226198-71226199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35864075	chr7:71226280-71226281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552863504	chr7:71226284-71226285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546880093	chr7:71226317-71226318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13221582	chr7:71226350-71226351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184536264	chr7:71226379-71226380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116279102	chr7:71226487-71226488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569217509	chr7:71226542-71226543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565630229	chr7:71226544-71226545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375677622	chr7:71226591-71226592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369771418	chr7:71226625-71226626	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs6964547	chr7:71226690-71226691	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs189245368	chr7:71226763-71226764	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs6944073	chr7:71226816-71226817	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs181255533	chr7:71226820-71226821	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs75338297	chr7:71226823-71226824	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs201686754	chr7:71226845-71226846	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs146636671	chr7:71226873-71226874	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71223400-71227400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:71226600-71227800	Active TSS	Fetal Heart	heart
3	chr7:71226800-71227200	Enhancers	H9 Cell Line	embryonic stem cell

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